ArticleAmerican journal of human genetics2020
Genome-wide Enrichment of De Novo Coding Mutations in Orofacial Cleft Trios.
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Article in American journal of human genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 64 papers, 1 of them a synthesis that pooled it.
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64citing papers in PubMed, 1 pooled it
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Who cites it
64 citing papers in PubMed, 1 synthesis or guideline pooled it, 92 citations in OpenAlex.
- Meta-analysis of 46,000 germline de novo mutations linked to human inherited disease.Human genomics · 2024Pooled it
- Rare variants in embryonic development and cell signalling genes in syndromic and non-syndromic orofacial clefts: evidence from a Colombian Caribbean cohort.Journal of human genetics · 2026Article
- Genetic alterations in SUPT6H are associated with neurodevelopmental disorders.Biochimica et biophysica acta. Molecular basis of disease · 2026Article
- Comprehensive analysis ofmedRxiv : the preprint server for health sciences · 2026Article
- Gene expression dynamics of human and mouse craniofacial development at the single-cell level.Nature communications · 2026Article
- Advancements in Pathogenic Genes and Biomarkers for Non-syndromic Cleft Lip With or Without Cleft Palate Via Multiomics.International dental journal · 2026Review
- Actomyosin contractility and a threshold of cadherin cell adhesion are required during tissue fusion.The Journal of cell biology · 2026Article
- The Evolution of Gene Sequencing Technologies: Unveiling Genetic Architecture of Nonsyndromic Orofacial Clefts.Genetics research · 2026Review
- Expanding the Genetic Spectrum of Non-Syndromic Cleft Lip and Palate Through Whole-Exome Sequencing.International journal of molecular sciences · 2025Article
- Haploinsufficiency of GRHL2 is associated with orofacial clefting in humans.Human molecular genetics · 2025Article
- Distinguishing syndromic and nonsyndromic cleft palate through analysis of protein-altering de novo variants in 818 trios.American journal of human genetics · 2025Article
- A clinical and genotype-phenotype analysis of MACF1 variants.American journal of human genetics · 2025Article
- Rare variants in PRKCI cause Van der Woude syndrome and other features of peridermopathy.American journal of human genetics · 2025Article
- Meta-analysis reveals transcription factors and DNA binding domain variants associated with congenital heart defect and orofacial cleft.NPJ genomic medicine · 2025Article
- Functional Annotation of De Novo Variants Found Near GWAS Loci Associated With Cleft Lip With or Without Cleft Palate.Birth defects research · 2025Article
- Loss of function of the zinc finger homeobox 4 gene, ZFHX4, underlies a neurodevelopmental disorder.American journal of human genetics · 2025Article
- Role of ZFHX4 in orofacial clefting based on human genetic data and zebrafish models.European journal of human genetics : EJHG · 2025Article
- Further Evidence for a Possible Role for ZFHX4 in Human Ocular Development and Disease.American journal of medical genetics. Part A · 2025Article
- Expression analysis of genes including Zfhx4 in mice and zebrafish reveals a temporospatial conserved molecular basis underlying craniofacial development.Developmental dynamics : an official publication of the American Association of Anatomists · 2025Article
- Gene expression patterns of the developing human face at single cell resolution reveal cell type contributions to normal facial variation and disease risk.bioRxiv : the preprint server for biology · 2025Article
4 more citing papers are in PubMed but not listed here.
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Authors and funding
27 authors at 10 institutions in 2 countries.
Madison R BishopDepartment of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA.
Kimberly K Diaz PerezDepartment of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA.
Miranda SunDepartment of Comparative Biosciences, School of Veterinary Medicine, University of Wisconsin, Madison, WI 53706, USA.
Samantha HoDepartment of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA.
Pankaj ChopraDepartment of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA.
Nandita MukhopadhyayDepartment of Oral Biology, University of Pittsburgh School of Dental Medicine, Pittsburgh, PA 15219, USA.
Jacqueline B HetmanskiDepartment of Epidemiology, Bloomberg School of Public Health, Johns Hopkins University, Baltimore, MD 21205, USA.
Margaret A TaubDepartment of Biostatistics, Bloomberg School of Public Health, Johns Hopkins University, Baltimore, MD 21205, USA.
Lina M Moreno-UribeDepartment of Orthodontics, College of Dentistry, University of Iowa, Iowa City, IA 52242, USA.
Luz Consuelo Valencia-RamirezFundación Clínica Noel, Carrera 50 # 63-131, Medellín, Colombia.
Claudia P Restrepo MuñetonFundación Clínica Noel, Carrera 50 # 63-131, Medellín, Colombia.
George WehbyDepartment of Health Management and Policy, College of Public Health, University of Iowa, Iowa City, IA 52242, USA.
Jacqueline T HechtDepartment of Pediatrics, McGovern Medical School and School of Dentistry, UT Health at Houston, Houston, TX 77030, USA.
Frederic DeleyiannisUCHealth Plastic and Reconstructive Surgery, Colorado Springs, CO 80907, USA.
Seth M WeinbergDepartment of Oral Biology, University of Pittsburgh School of Dental Medicine, Pittsburgh, PA 15219, USA; Department of Human Genetics, University of Pittsburgh Graduate School of Public Health, Pittsburgh, PA 15219, USA.
Yah Huei Wu-ChouDepartment of Medical Research, Chang Gung Memorial Hospital, Taoyuan, Taiwan.
Philip K ChenCraniofacial Centre, Taipei Medical University Hospital and Taipei Medical University, Taipei, Taiwan.
Harrison BrandDepartment of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA.
Michael P EpsteinDepartment of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA.
Ingo RuczinskiDepartment of Biostatistics, Bloomberg School of Public Health, Johns Hopkins University, Baltimore, MD 21205, USA.
Jeffrey C MurrayDepartment of Pediatrics, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA.
Terri H BeatyDepartment of Epidemiology, Bloomberg School of Public Health, Johns Hopkins University, Baltimore, MD 21205, USA.
Eleanor FeingoldDepartment of Human Genetics, University of Pittsburgh Graduate School of Public Health, Pittsburgh, PA 15219, USA.
Robert J LipinskiDepartment of Comparative Biosciences, School of Veterinary Medicine, University of Wisconsin, Madison, WI 53706, USA.
David J CutlerDepartment of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA.
Mary L MarazitaDepartment of Oral Biology, University of Pittsburgh School of Dental Medicine, Pittsburgh, PA 15219, USA; Department of Human Genetics, University of Pittsburgh Graduate School of Public Health, Pittsburgh, PA 15219, USA.
Elizabeth J LeslieDepartment of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA. Electronic address: ejlesli@emory.edu.
Emory University · USJohns Hopkins University · USUniversity of Pittsburgh · USUniversity of Iowa · USUniversity of Wisconsin–Madison · USChang Gung Memorial Hospital · TWHarvard University · USTaipei Medical University Hospital · TWThe University of Texas Health Science Center at Houston · USUniversity of Colorado Health · US
Funding
Large Scale Genome SequencingU54HG003079 · NHGRI · WASHINGTON UNIVERSITY · PI DUTCHER, SUSAN K · 2004 to 2016
$445.7MGMKF competing renewalU24HD090743 · NICHD · BROAD INSTITUTE, INC. · PI Stacey Gabriel · 2016 to 2026
$68.3MU2C Kids First Admin Supplement - data transferU2CHL138346 · NHLBI · CHILDREN'S HOSP OF PHILADELPHIA · PI RESNICK, ADAM CAIN · 2017 to 2022
$21.5MExtending the Phenotype of Nonsyndromic Orofacial CleftsR01DE016148 · NIDCR · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI MARAZITA, MARY L., WEINBERG, SETH M · 2004 to 2018
$19.7MMOLECULAR STUDIES IN NONSYNDROMIC CLEFT LIP AND PALATER01DE011931 · NIDCR · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI BLANTON, SUSAN HALLORAN, HECHT, JACQUELINE T · 1999 to 2017
$7.6MGenetic modifiers of Van der Woude syndromeR01DE028342 · NIDCR · EMORY UNIVERSITY · PI LESLIE-CLARKSON, ELIZABETH JANE · 2019 to 2023
$2.7MFunctional tests of non-coding DNA variants associated with risk for orofacial clefting.R01DE027362 · NIDCR · UNIVERSITY OF WASHINGTON · PI CORNELL, ROBERT AARON · 2018 to 2022
$2.2MHealth outcomes and improved phenotypic characterization of cleft lip and palateR01DD000295 · DD · UNIVERSITY OF IOWA · PI WEHBY, GEORGE L · 2007 to 2009
$1.4MGenetics of Craniofacial Disorders and Related PhenotypesR00DE025060 · NIDCR · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI LESLIE-CLARKSON, ELIZABETH JANE · 2017 to 2019
$732kExploring the genetic architecture of structural birth defectsR03HD099547 · NICHD · MASSACHUSETTS GENERAL HOSPITAL · PI TALKOWSKI, MICHAEL E · 2019 to 2020
$336kExpanded analysis of whole genome sequence data in cleft case-parent triosR03DE027121 · NIDCR · JOHNS HOPKINS UNIVERSITY · PI BEATY, TERRI H, TAUB, MARGARET · 2017 to 2018
$327kSequence-based discovery of risk and modifier variants for orofacial cleftsR03DE027103 · NIDCR · EMORY UNIVERSITY · PI LESLIE-CLARKSON, ELIZABETH JANE · 2018 to 2019
$312kNCBDD CDC HHS R01 DD000295NHGRI NIH HHS U54 HG003079NHLBI NIH HHS U2C HL138346NICHD NIH HHS R03 HD099547NICHD NIH HHS U24 HD090743NIDCR NIH HHS R00 DE025060NIDCR NIH HHS R01 DE011931NIDCR NIH HHS R01 DE016148NIDCR NIH HHS R01 DE027362NIDCR NIH HHS R01 DE028342NIDCR NIH HHS R03 DE026469NIDCR NIH HHS R03 DE027103NIDCR NIH HHS R03 DE027121
Abstract
Although de novo mutations (DNMs) are known to increase an individual's risk of congenital defects, DNMs have not been fully explored regarding orofacial clefts (OFCs), one of the most common human birth defects. Therefore, whole-genome sequencing of 756 child-parent trios of European, Colombian, and Taiwanese ancestry was performed to determine the contributions of coding DNMs to an individual's OFC risk. Overall, we identified a significant excess of loss-of-function DNMs in genes highly expressed in craniofacial tissues, as well as genes associated with known autosomal dominant OFC syndromes. This analysis also revealed roles for zinc-finger homeobox domain and SOX2-interacting genes in OFC etiology.
Indexed as
Asian PeopleCleft LipCleft PalateFemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansMaleMutationPolymorphism, Single NucleotideWhite PeopleWhole Genome Sequencingde novo mutationsorofacial cleftstrioswhole genome sequencing
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